Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review

• Główni autorzy: Yizhou Huang (Autor), Han Dai (Autor), Gangyi Yang (Autor), Lili Zhang (Autor), Shiyao Xue (Autor), Min Zhu (Autor)
• Format: Książka
• Wydane: BMC, 2021-10-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract Background Congenital disorders of glycosylation (CDG) are a group of metabolic diseases with clinical and genetic heterogeneity, and CDG-IIg is one of the rare reported types of CDG. The aim of this study is to report the clinical manifestations and gene-phenotype characteristics of a rare...